Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center
Clinical evaluation and mutation analysis was performed in 51 consecutive probands with severe eye malformations – anophthalmia and/or severe microphthalmia – seen in a single specialist ophthalmology center. The mutation analysis consisted of bidirectional sequencing of the coding regions of SOX2,...
Main Authors: | Gerth-Kahlert, Christina, Williamson, Kathleen, Ansari, Morad, Rainger, Jacqueline K, Hingst, Volker, Zimmermann, Theodor, Tech, Stefani, Guthoff, Rudolf F, van Heyningen, Veronica, FitzPatrick, David R |
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Format: | Online |
Language: | English |
Published: |
Blackwell Publishing Ltd
2013
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Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893155/ |
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